Canonical Allele Identifier: CA16034113

Gene: APC

Linked Data

• ClinVar Variation Id: 1477212
• ClinVar RCV Id: RCV003773118
• dbSNP Id: rs1766064051
• MyVariant Identifiers: chr5:g.112177135T>G (hg19) ; chr5:g.112841438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841438T>G , CM000667.2:g.112841438T>G	GRCh38
NC_000005.9:g.112177135T>G , CM000667.1:g.112177135T>G	GRCh37
NC_000005.8:g.112205034T>G	NCBI36
NG_008481.4:g.153918T>G , LRG_130:g.153918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5898T>G	ENSP00000473355.2:p.Asp1966Glu
ENST00000505350.2:c.*5850T>G	ENSP00000481752.1:n.*5850T>G
ENST00000507379.6:c.5790T>G	ENSP00000423224.2:p.Asp1930Glu
ENST00000509732.6:c.5844T>G	ENSP00000426541.2:p.Asp1948Glu
ENST00000512211.7:c.5844T>G	ENSP00000423828.3:p.Asp1948Glu
ENST00000257430.9:c.5844T>G MANE Select	ENSP00000257430.4:p.Asp1948Glu
ENST00000257430.8:c.5844T>G	ENSP00000257430.4:p.Asp1948Glu
ENST00000508376.6:c.5844T>G	ENSP00000427089.2:p.Asp1948Glu
ENST00000508624.5:c.*5166T>G	ENSP00000424265.1:n.*5166T>G
ENST00000520401.1:c.230+12466T>G
NM_000038.5:c.5844T>G	NP_000029.2:p.Asp1948Glu
NM_001127510.2:c.5844T>G	NP_001120982.1:p.Asp1948Glu
NM_001127511.2:c.5790T>G	NP_001120983.2:p.Asp1930Glu
NM_001354895.1:c.5844T>G	NP_001341824.1:p.Asp1948Glu
NM_001354896.1:c.5898T>G	NP_001341825.1:p.Asp1966Glu
NM_001354897.1:c.5874T>G	NP_001341826.1:p.Asp1958Glu
NM_001354898.1:c.5769T>G	NP_001341827.1:p.Asp1923Glu
NM_001354899.1:c.5760T>G	NP_001341828.1:p.Asp1920Glu
NM_001354900.1:c.5721T>G	NP_001341829.1:p.Asp1907Glu
NM_001354901.1:c.5667T>G	NP_001341830.1:p.Asp1889Glu
NM_001354902.1:c.5571T>G	NP_001341831.1:p.Asp1857Glu
NM_001354903.1:c.5541T>G	NP_001341832.1:p.Asp1847Glu
NM_001354904.1:c.5466T>G	NP_001341833.1:p.Asp1822Glu
NM_001354905.1:c.5364T>G	NP_001341834.1:p.Asp1788Glu
NM_001354906.1:c.4995T>G	NP_001341835.1:p.Asp1665Glu
NM_000038.6:c.5844T>G MANE Select	NP_000029.2:p.Asp1948Glu
NM_001127510.3:c.5844T>G	NP_001120982.1:p.Asp1948Glu
NM_001127511.3:c.5790T>G	NP_001120983.2:p.Asp1930Glu
NM_001354895.2:c.5844T>G	NP_001341824.1:p.Asp1948Glu
NM_001354896.2:c.5898T>G	NP_001341825.1:p.Asp1966Glu
NM_001354897.2:c.5874T>G	NP_001341826.1:p.Asp1958Glu
NM_001354898.2:c.5769T>G	NP_001341827.1:p.Asp1923Glu
NM_001354899.2:c.5760T>G	NP_001341828.1:p.Asp1920Glu
NM_001354900.2:c.5721T>G	NP_001341829.1:p.Asp1907Glu
NM_001354901.2:c.5667T>G	NP_001341830.1:p.Asp1889Glu
NM_001354902.2:c.5571T>G	NP_001341831.1:p.Asp1857Glu
NM_001354903.2:c.5541T>G	NP_001341832.1:p.Asp1847Glu
NM_001354904.2:c.5466T>G	NP_001341833.1:p.Asp1822Glu
NM_001354905.2:c.5364T>G	NP_001341834.1:p.Asp1788Glu
NM_001354906.2:c.4995T>G	NP_001341835.1:p.Asp1665Glu